tbuckley/cabot-search huggingface dataset:
AB1258 CAMURATI-ENGELMANN DISEASE: EFFICACY OF ANTI-TNFALFA TREATMENT
Authors: M. Maffi, G. De Mattia, M. Mosca, M. Mazzantini
Journal: Annals of the Rheumatic Diseases (2023)

<h3>Background</h3> Camurati-Engelmann disease (CED) is a rare osteosclerotic autosomal dominant condition responsible for chronic diaphyseal pain. It is caused by mutations of <i>Tumor Growth Factor β1 (TGFβ1</i>) gene. Currently there are no validated therapies for this condition. <h3>Objectives</h3> To test the efficacy of anti-TNFα antibody in a patient affected by CED. <h3>Methods</h3> Etanercept 50 mg per week was administered in a patient with CED. Data regarding pain and assumption of glucocorticoids and non-steroidal anti-inflammatory drugs were collected. Technetium-99m bone scintigraphy was performed at baseline, and after six months of treatment. <h3>Results</h3> A 34-year-old woman came to our attention in 2011 due to chronic pain of lower and upper limbs, especially localized at the diaphyses of long bones. The symptoms began in adolescence, but independently resolved during pregnancy. Two sisters and her 16-year-old son presented with a similar clinical picture. She had no clinical features or laboratory findings compatible with a systemic autoimmune disease. In the same year, along with relevant imaging exams, a genetic evaluation of all family members was performed, with the aim to find a hereditary disease. Compatibly with CED, the mutation <i>c.505G&gt;A</i> of exon 2 of TGF<i>β1</i> gene was confirmed. Treatment with daily glucocorticoids, losartan and zoledronic acid 5 mg per year was administered, with little benefit for the patient. During an evaluation in 2022 she complained severe pain (visual analogue scale 8/10) unresponsive to 6-methylprednisolone 8 mg and indomethacin 100 mg daily. Technetium-99m bone scintigraphy showed abnormal accumulation in the skull, humeral and femoral diaphysis (Figure 1). Based on a single case report in on a patient with CED and Chron’s disease successfully treated with success with an anti-TNFα drug, we decided to administer etanercept 50 mg per week. After 3 months we observed a clear subjective and objective improvement in pain (VAS 4/10) and a reduction in the assumption of indomethacin (150 mg weekly) and 6-methyl prednisolone (4 mg daily). However, technetium-99m bone scintigraphy carried out six months later did not reveal document a reduction in uptake of the tracer. <h3>Conclusion</h3> A patient with CED experienced a significative improvement in symptoms after treatment with anti-TNFα antibody. Our experience opens a window on a possibly new therapeutic option which could be implemented in the treatment of CED unresponsive to traditional drugs. <h3>REFERENCES:</h3> NIL. <h3>Acknowledgements:</h3> NIL. <h3>Disclosure of Interests</h3> None Declared.
AB1559 AUTOIMMUNE DISEASES ASSOCIATED WITH AUTOIMMUNE HEPATITIS
Authors: N. Trad, A. Mensi, E. Belhadj Mabrouk, S. Ayadi, Y. Zaimi, L. Mouelhi, Y. Said, R. Dabbeche
Journal: Annals of the Rheumatic Diseases (2023)

<h3>Background</h3> Autoimmune hepatitis (AIH) is a rare pathology characterized by necrotic-inflammatory hepatocyte lesions, the presence of autoantibodies, and high sensitivity to corticosteroid treatment. it is often associated with other autoimmune diseases. <h3>Objectives</h3> Our objective was to study the clinical aspects, associated auto-immune diseases, and response to the treatment of AIH. <h3>Methods</h3> We conducted a retrospective study including consecutive patients with AIH between January 2000 and December 2018. <h3>Results</h3> We included twenty-two patients; 21 women and one man with an average age of 46 [18-95]. Jaundice was the most frequent presenting sign (80%). Biology found cytolysis greater than ten times in 45.5% of cases. A predominant hypergammaglobulinemia on IgG was noted in 77.2% of cases. At the time of diagnosis, 59% of patients were in the stage of cirrhosis. Antinuclear antibodies, Anti-smooth muscle antibodies, and Anti-LKM1 antibodies were positive in 47.6%, 41%, and 13.3% of cases, respectively. The liver biopsy was performed in 8 patients (36.3%) with a compatible histological appearance in 7 patients. In 54.5% of cases, an associated autoimmune pathology was noted; the most common were autoimmune thyroiditis (33.3%) and autoimmune hemolytic anemia (33.3%). There were also two cases of Sjögren's syndrome, one case of systemic lupus erythematosus, and one case of rheumatoid arthritis. An overlap syndrome (AIH-PBC) was found in 22.7% of patients. The combined corticosteroid-azathioprine treatment was prescribed in 15 patients (68.1%). In overlap syndromes, ursodeoxycholic acid has been associated. The mean duration of follow-up was 94.5 months. Under treatment, biochemical remission was achieved in 23% of patients. <h3>Conclusion</h3> In our study, the prevalence of autoimmune diseases associated with AIH was significant, which would underline the importance of systematic screening for clinical and biological immune manifestations in those patients. <h3>REFERENCES:</h3> NIL. <h3>Acknowledgements:</h3> NIL. <h3>Disclosure of Interests</h3> None Declared.
AB1265 THE INCIDENCE OF ACUTE CORONARY SYNDROME IN GOUT AND ASSOCIATED FACTORS
Authors: I. Roki Chaoui, N. Akasbi, S. Benmaamar, I. El Mezouar, T. Harzy
Journal: Annals of the Rheumatic Diseases (2023)

<h3>Background</h3> The Gout is a metabolic arthropathy including monosodium urate crystal deposition associated with an increased risk of cardiovascular morbidity and mortality, particularly related to coronary heart disease. <h3>Objectives</h3> The purpose of our work was to determine the frequency of heart attack in our gouty patients and the factors associated with its incidence. <h3>Methods</h3> A retrospective observational study was conducted. The inclusion period was from January 2011 to March 2022. <h3>Results</h3> Our sample included 138 patients. The mean age was 58±13 years and the sex ratio was 1.46 M/W. The mean duration of evolution was 20±28 months. The prevalence of patients with metabolic syndrome including diabetes, hypertension and dyslipidemia was 25.4%, 43.5% and 16.7% of cases respectively. Smoking was present in 9.5% of cases. Medication was found in 31.2% of cases. The disease was mono-articular in 64.5% of cases and poly-articular in 35.5% of cases, with tophus present in 11 patients. Monosodium urate crystals were found in the synovial fluid in 9.4% of cases. The mean uric acid level, C - reactive protein and creatinine were 78.35±22 mg/l; 55.9±86 mg/l and 15±19 mg/l respectively. The number of patients with heart attack in our sample was 22 or 15.9% of cases. In bi-variate analysis, the presence of heart attack in our patients was associated with five factors, age (p=0.007), smoking (p=0.021), drugs including antiplatelet agents (p=0.0001) and loop diuretics (p=0.002), dyslipidemia (p=0.038) and uric acid level (p=0.028). In multivariate analysis, the risk of developing an acute coronary syndrome in our patients followed for gout was increased sevenfold in the presence of smoking (OR=7.591; CI95% [1.474; 39.098]; p=0.015), and fivefold in the presence of dyslipidemia (OR=5.744; CI95% [1.323; 24.947]; p=0.020). <h3>Conclusion</h3> In addition to our work, several previous studies confirm the increased cardiovascular risk of gout but few investigate the predictive factors [1]. Biological studies have indicated that the systemic inflammation induced by the crystals characteristic of gout leads to atherogenesis through endothelial dysfunction [2]. In our sample, the incidence of acute coronary syndrome is associated with smoking and dyslipidemia. The vital prognosis is at stake, hence the need for adequate and early management of this rheumatism as well as the prevention of associated factors. <h3>References</h3> [1]Chia-wei Liang, Md. Mohaimenul Islam, Tahmina Nasrin Poly, et al. Association between gout and cardiovascular disease risk: A nation-wide case-control study. Joint bone spine 2018. https://doi.org/10.1016/j.jbspin.2018.06.011. [2]Brook RD, Yalavarthi S, Myles JD, et al. Determinants of vascular function in patients with chronic gout. The Journal of Clinical Hypertension2011; 13:178–88. <h3>Acknowledgements:</h3> NIL. <h3>Disclosure of Interests</h3> None Declared.
AB1239 THE INVERTED J-SHAPED RELATIONSHIP BETWEEN SERUM URIC ACID LEVEL AND ABDOMINAL MUSCLE MASS AMONG KOREAN MALE POPULATION: A SINGLE-CENTER STUDY OF 5114 CASES
Authors: D. H. Lim, S. J. Choi
Journal: Annals of the Rheumatic Diseases (2023)

<h3>Background</h3> Sarcopenia is the decline of muscle mass and strength with age. Evidence suggests that oxidative stress and molecular inflammation play important roles in muscle atrophy by interfering with the balance between protein synthesis and breakdown. Uric acid (UA) may be related to sarcopenia through its role as either an antioxidant or pro-oxidant properties. Although the association of serum UA level with sarcopenia has been investigated in previous studies, the results are conflicting. <h3>Objectives</h3> The purpose of this study was to investigate the association of serum UA with abdominal muscle mass using abdominopelvic computed tomography (apCT) among Korean adult men. <h3>Methods</h3> We evaluated 5114 men aged above 20 years, who voluntarily underwent laboratory tests and apCT as a part of general health examination from May 2014 to June 2019. The participants were stratified into quartiles according to their serum UA levels. The low-attenuation abdominal muscle area (LAMA), normal-attenuation abdominal muscle area (NAMA) and total abdominal muscle area (TAMA) were measured using cross-sectional apCT data of the L3 lumbar vertebrae. Between-group comparisons were performed using Pearson's chi-square test for categorical variables, and the ANOVA for numerical variables, as appropriate. The trends between serum UA quartiles and each AMA were analyzed by univariate (ANOVA) and multivariate analysis (ANCOVA). <h3>Results</h3> The mean age of individuals was 52.5 ± 9.37 years and the mean body mass index (BMI) was 24.6 ± 2.92 kg/m<sup>2</sup>. In univariate analysis LAMA, NAMA and TAMA were increased continuously across quartiles of serum UA. However, serum UA levels (quartiles) showed an inverted J-shaped curve with NAMA and TAMA, after adjustment for confounding factors including age, BMI, smoking status, hypertension, diabetes, dyslipidemia, glomerular filtration rate, and c-reactive protein (Table 1). <h3>Conclusion</h3> The results suggest that a specific range of serum UA levels may be associated with better abdominal muscle mass in Korean adult men. <h3>REFERENCES:</h3> NIL. <h3>Acknowledgements:</h3> NIL. <h3>Disclosure of Interests</h3> None Declared.
AB0881 CLINICAL TRAJECTORIES OF MULTIFACTORIAL HAND FUNCTION DETERIORATION IN SYSTEMIC SCLEROSIS
Authors: E. De Lorenzis, V. Kakkar, S. Di Donato, M. Wilson, T. Barnes, B. Saleem, A. Herrick, M. Nisar, C. Morley, K. Douglas, C. P. Denton, E. Derret-Smith, P. Heliwell, L. Green, B. Alcacer-Pitarch, F. Del Galdo
Journal: Annals of the Rheumatic Diseases (2023)

<h3>Background</h3> Hand function deterioration is a major multifactorial driver of disability in Systemic Sclerosis (SSc) whose rate has been poorly described. <h3>Objectives</h3> The aim of this study is to describe incidence and risk factors of hand functional worsening in a longitudinal, multicenter, observational SSc cohort. <h3>Methods</h3> Hand involvement and disability were evaluated in consecutively enrolled patients for 24 months. Patient-reported hand impairment was captured with Cochin Hand Disability Score (CHFS) and the corresponding minimal clinical important differences (MCID) and patient acceptable symptom state (PASS). Clinical association with CHFS change over time and clinically meaningful worsening (MCID-Worsening) were investigated. <h3>Results</h3> Three-hundred-ninety-six patients from 10 centres were evaluated and 201 SSc (age 55.7±12.2 years, male 13.4%) were included in the final analysis. Median (IQR) disease duration was 5 (2-11) years while the proportion of patients with diffuse cutaneous variant was the 29.9%. Fifty-six (27.8%) patients had a CHFS ≥PASS at baseline. CHFS increased over time 35.8% of patients reaching CHFS≥PASS (p&lt;0.001), and 52.2% of patients reporting MCID-Worsening at 24 months. A LASSO model simultaneously exploring the effects of multiple baseline clinical variables showed that MCID-Worsening was associated with male gender, LeRoy diffuse variant, late capillaroscopy pattern, shorter disease duration, absence of digital ulcers, presence of tenosynovitis, pain, Raynaud's phenomenon, and global and hand disability severity, together with treatment with immunosuppressants, vasoactive medications, and second-line analgesics. <h3>Conclusion</h3> Hand function tends to deteriorate over time in one SSc patient in two despite available therapies and clinical assessment support risk stratification. These results pave the way to inform design of intervention studies aimed at improving the outcome of this major driver of disability in SSc. <h3>REFERENCES:</h3> NIL. <h3>Acknowledgements:</h3> NIL. <h3>Disclosure of Interests</h3> None Declared.
AB1450 HIP INVOLVEMENT IN TUNISIAN CHILDREN WITH JUVENILE IDIOPATHIC ARTHRITIS
Authors: M. Ardhaoui, D. Khalifa, O. Farhat, R. Fakhfakh, N. El Amri, K. Baccouche, E. Bouajina
Journal: Annals of the Rheumatic Diseases (2023)

<h3>Background</h3> Juvenile idiopathic arthritis (JIA) is characterized by widely heterogeneous clinical course and outcomes. Hips are the most commonly affected joints in severe uncontrolled JIA. <h3>Objectives</h3> The aim of our study was to determine the prevalence and associated factors of hip involvement in Tunisian JIA patients. <h3>Methods</h3> A retrospective and observational monocentric study including children with JIA according to the ILAR was conducted in the Rheumatology department of Sousse, Tunisia. We compared the disease parameters between the two groups with and without coxitis. <h3>Results</h3> We included 55 children (28 girls and 27 boys). The mean age was 13.6 years. The predominant subtypes of JIA were the seronegative polyarticular JIA (38.2%), and the seronegative oligoarticular form and juvenile spondyloarthritis (16.4% each). Biological inflammatory syndrome was found in 65.5% of cases. The mean ESR and CRP was 42.4 mm/h and 28.8 mg/l respectively. Hip involvement concerned 30.9% of the patients (n=17) and was bilateral in 64.7% of cases (n=11). Coxitis occurred on average 10 years after the JIA onset. The mean Lequesne index was 12. Hip radiographs were normal in 40% of cases. Magnetic resonance imaging was performed in 25% of cases and revealed synovitis in 70% of cases. Overall, 61.8% of patients had medical treatment combining non steroidal anti-inflammatory drugs and rehabilitation. Only two patients had local infiltration with Hexatrione. In 12.7% of cases (7 cases), a total hip replacement was necessary. Hip involvement was significantly associated with younger age at onset (p=0.02), polyarticular subtype of JIA (p=0.04) and with the presence of biological inflammatory syndrome (p=0.03). However, coxitis was not significantly associated with gender, the duration of JIA progression, extraarticular manifestations, structural damage or the different used treatments. <h3>Conclusion</h3> Our study showed that hip involvement is frequent among Tunisian patients with JIA. Coxitis was associated with the polyarticular subtype, with biological inflammatory syndrome and younger age at onset of JIA. <h3>REFERENCES:</h3> NIL. <h3>Acknowledgements:</h3> NIL. <h3>Disclosure of Interests</h3> None Declared.
AB1206 THE SOURCES OF DISEASE-RELATED INFORMATION FOR MOROCCO’S OSTEOARTHRITIS PATIENTS
Authors: F. Z. Aharrane, F. Z. Taik, R. Bensaid, N. El Mansouri, N. Soba, M. Fourtassi, F. E. Abourazzak
Journal: Annals of the Rheumatic Diseases (2023)

<h3>Background</h3> In osteoarthritis, the patients have an almost continuous need of information and communication. In addition to the information delivered by health professionals, patients tend to look for other sources to complete it. <h3>Objectives</h3> Our study aims to investigate the non-conventional sources of information used by osteoarthritis patients and to identify the possible associated factors. <h3>Methods</h3> This is a cross-sectional study, conducted in the rheumatology department at the University Hospital Center in Tangier, which included patients diagnosed with osteoarthritis.Data on sociodemographic characteristics, clinical presentations, comorbidities, and the health outcomes of patients were examined. Patients' beliefs and attitudes about disease-related sources of information were assessed by a questionnaire.A list of 12items was proposed to the patients who mentioned the different used sources, their level of trust, and their experience with the effectiveness of these sources. Binary logistic regression was conducted to identify the associated factors with the use of the disease-related sources of information. <h3>Results</h3> We included 221 patients. The mean age was 59.4 ± 9.8, 88.7% of the patients were female, and 69.2% had comorbidities. 80.5% were diagnosed with knee osteoarthritis and 19.5% with hand osteoarthritis. The median of disease duration was 8 [2-10] years. 31.2% of the patients sought information related to their osteoarthritis, the 3 main sources were: peers (21.7%), YouTube (17.2%) and television (13.1%). 12.7% have already applied some of this information. Only 10% of patients discussed the found information with their physicians and 85.4% would like to have health professionals in their online space to answer their questions. In uni and multivariate analysis, age (OR=0.959, IC95% [0.927-0.991], p=0.014) and level of education (OR=1.597, IC95% [1.146-2.224], p=0.006) were statistically significant with the use of non-conventional information sources. <h3>Conclusion</h3> Our study showed that Morocco's osteoarthritis patients, especially those with certain age and level of education, are seeking information about their disease. Rheumatologists need to invest more, especially on virtual spaces, to respond to these requests. <h3>REFERENCES:</h3> NIL. <h3>Acknowledgements:</h3> NIL. <h3>Disclosure of Interests</h3> None Declared.
AB1241 FACTORS ASSOCIATED TO LOSS FOR FOLLOW-UP IN A PROSPECTIVE GOUT COHORT
Authors: F. Perez-Ruiz, C. Vazquez-Puente, M. D. C. Modesto-Caballero, A. M. Herrero-Beites
Journal: Annals of the Rheumatic Diseases (2023)

<h3>Background</h3> Adherence to treatment has been widely studied, but not adherence to follow-up visits. <h3>Objectives</h3> To analyze factors associated to loss for follow-up in patients with gout and with a programmed follow-up visit to the rheumatology office. <h3>Methods</h3> Analysis of data from an inception cohort of patients with gout prospectively followed-up in a university hospital setting. Variables include general data, along with clinical characteristics of gout, comorbidities, treatment and adherence to prescribed urate-lowering therapy (ULT). Those variables associated (p&lt;0.20) in bivariate analysis were included in a multivariate analysis. Patients who did not attend to a visit because they passed were not considered as lost for follow-up. <h3>Results</h3> From a series of 1,442 consecutive patients, 354 (24.5%) were lost for follow-up; 219 (15.2%) did not attended because they died between programmed visits. Mean follow-up until lost for follow-up was 32 months vs. 49 months for patients who still remained in active follow-up. Age (older), gender (women), pooled comorbidity (higher), severity of gout (monoarticular), alcohol intake (&lt;15 g/day), adherence (MPR&gt; 80%), previous treatment (none), and consultation (primary care), were associated to higher rates of loss for follow-up in bivariate analysis. No association was found between persistence on follow-up and time from onset of gout, presence of tophi, number of flares per year, previous and prescribed ULT. In multivariate analysis (Table 1), only higher age, higher adherence to prescribed, and consultation from primary care were independently associated to persistence on follow-up. Severity of gout (polyarticular disease) seemed to be also associated to persistence, but lacked statistical significance. <h3>Conclusion</h3> In our clinical setting, the profile of patients at higher risk of abandoning prescribed follow-up is that of a younger, poorly adherent, with lower burden of disease and consulting through a assistance "short-cut". <h3>Acknowledgements</h3> Cruces Rheumatology Association. <h3>Disclosure of Interests</h3> Fernando Perez-Ruiz Speakers bureau: Menarini, Astellas, Consultant of: Arthriti, Anylam, Selecta, LG, Protalix, Cristina Vazquez-Puente: None declared, Maria del Consuelo Modesto-Caballero: None declared, Ana Maria Herrero-Beites: None declared.
AB1509 MUCOCUTANEOUS INVOLVEMENT IS THE MORE FREQUENT REASON FOR IMMUNOSUPPRESSIVE NEED COMPARED TO MAJOR ORGAN INVOLVEMENT IN AN EARLY MALE BEHÇET’S DISEASE PROSPECTIVE COHORT
Authors: F. Alibaz-Oner, B. Aldag, S. Kutluğ Ağaçkiran, E. Karatay, T. Ergun, H. Direskeneli
Journal: Annals of the Rheumatic Diseases (2023)

<h3>Background</h3> Major organ involvement is one of the main causes of mortality and morbidity in Behçet's Disease (BD) [1]. However, the prognosis and predictors of major organ involvement are insufficiently studied. <h3>Objectives</h3> We aimed to follow young, male BD patients with only mucocutaneous symptoms who have the highest risk for new major organ involvement prospectively. <h3>Methods</h3> Thirty-six male patients with BD were included in the study. Patients with BD were assessed prospectively at 3-6 months intervals and in any urgent visits. New major organ involvements and reasons for immunosuppressive (IS) need were assessed during prospective follow-up. <h3>Results</h3> At baseline, the mean disease duration was 3.3 years. All patients were under colchicine treatment. The mean follow-up duration was 90.7 months. Overall, 13 (36.1%) patients needed IS therapy during follow-up. The reason for IS need was major organ involvement in 5 (13.9%), refractory mucocutaneous involvement in 7 (19.4%), and articular involvement in 1 (2.8%) <i>(Table 1, Figure 1</i>). Major organ involvement was vascular in 3 patients, ocular in 1 patient, and ocular and vascular in 1 patient. In 8 of these 13 patients, step-up treatment was needed in ISs due to refractory disease or relapse. <h3>Conclusion</h3> Our study demonstrated a lower incidence of major vascular events in male BD patients during prospective follow-up compared to retrospective cohorts in the literature. Our results showed that refractory mucocutaneous involvement is a more frequent reason for IS need in BD than major organ involvement during prospective follow-up. <h3>Reference</h3> [1]Alibaz-Oner F, Direskeneli H. Management of vascular Behçet's disease. Int J Rheum Dis. 2019;22 Suppl 1:105-8. <h3>Acknowledgements</h3> I have no acknowledgments to declare. <h3>Disclosure of Interests</h3> None Declared.